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What are the signs and symptoms of Barth syndrome?

Symptoms associated with Barth syndrome may be evident at birth, infancy, or early childhood. Rarely, the disorder may not be diagnosed until adulthood. Most individuals with Barth syndrome present with weakened heart muscle (cardiomyopathy) that leads to the enlargement of the heart's lower chambers (ventricles). Known as dilated cardiomyopathy, signs of this condition are often present at birth, or may appear during the first months of life. Dilated endocardial myopathy typically weakens the heart's pumping action, reducing the volume of blood circulating to the lungs and the rest of the body (heart failure). Symptoms of heart failure may depend on the child's age and other factors. In young children, for example, heart failure may be manifest as fatigue and shortness of breath with exertion.[1]

Barth syndrome is also associated with abnormally diminished muscle tone (hypotonia), and muscle weakness (skeletal myopathy), that often leads to delays in development of gross motor skills. Gross motor skills include such activities as crawling, walking, running, jumping, and maintaining balance. Weakness of the facial muscles may lead to unusual facial expressions. In addition, affected infants and children may fail to thrive, and fail to gain weight at the expected rate. Some affected children have mild learning disabilities (although they are usually of normal intelligence), and in many cases, may be prone to recurrent bacterial infections due to low levels of circulating neutrophils in the blood (neutropenia).[1]

In addition to the signs and symptoms previously mentioned, individuals with Barth syndrome have abnormally increased levels of a substance called 3-methylglutaconic acid in their urine and blood. However, there does not appear to be an association between the increased acid levels and the severity of other symptoms and signs associated with Barth syndrome.[1]

Last updated: 6/3/2011

The Human Phenotype Ontology provides the following list of signs and symptoms for Barth syndrome.
If the information is available, the table below includes how often the symptom is seen in people with this condition.
You can use the MedlinePlus Medical Dictionary to look up
the definitions for these medical terms.

Signs and Symptoms

Approximate number of patients (when available)

Hypertrophic cardiomyopathy

90%

Abnormality of neutrophils

50%

Abnormality of the endocardium

50%

Abnormality of the musculature

50%

Neutropenia

5%

Talipes equinovarus

5%

3-Methylglutaconic aciduria

-

Abnormal mitochondrial morphology

-

Arrhythmia

-

Congestive heart failure

-

Deeply set eye

-

Dilated cardiomyopathy

-

Endocardial fibroelastosis

-

Exercise intolerance

-

Failure to thrive

-

Fatigue

-

Full cheeks

-

Gait disturbance

-

Granulocytopenia

-

Growth delay

-

Intermittent lactic acidemia

-

Macrotia

-

Mandibular prognathia

-

Motor delay

-

Myopathic facies

-

Recurrent infections in infancy and early childhood

-

Round face

-

Skeletal myopathy

-

X-linked recessive inheritance

-

Last updated: 3/1/2015

The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature.

The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined.

Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.